Genetics Section
Hereditary multiple exostoses is inherited in an autosomal dominant disease.
Most individuals with MHE / MO / HME have a parent who also has this condition, however, approximately 10% of individuals with
MHE / MO / HME have this condition as a result of a spontaneous
mutation are thus the first person in their family to be
affected.

Genetic Testing of the EXT1 and EXT2 genes is available on a clinical basis. Please read Genetic Guides and
laboratories information located near the bottom of this website page.

There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome
11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30% are located EXT2 mutation. In 10 to 20% of the
patients, no mutation is found.

Offspring of an affected individual have a 50% risk of inheriting the altered gene for hereditary multiple exostoses.


Prenatal diagnosis:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele)must be found before
prenatal diagnosis can be preformed. Analysis of DNA extracted from fetal cells obtained by
amniocentesis usually performed
at about 15-18 weeks' gestation or
chorionic villus sampling (CVS) at about 10-12 weeks' gestation.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period
or by ultrasound measurements.

Requests for prenatal testing for a condition such as MHE / MO / HME that does not affect intellect or life span, careful
discussion of these issues is appropriate. Differences in perspective may exist among medical professionals and families
regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination
rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the
parents.


Screening Embryos for Disease:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele must be found before PGD
can be preformed.

Preimplantation genetic diagnosis (PGD) is a test that screens for genetic mutations among embryos created during invitro
fertilization.

Developed in the early 1990's, preimplantation genetic diagnosis (PGD) is a way for couples to prevent a pregnancy affected by
a genetic condition disorder. This form of genetic testing is performed on embryos during an in vitro fertilization (IVF) cycle. The
embryos that have been analyzed and are found to be normal are transferred into the woman's uterus, where, hopefully, they
will implant and result in the birth of a healthy child.

With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a father's sperm are analyzed
for gene abnormalities that can cause disorders. Fertility specialists can use the results of this analysis to select only
mutation-free embryos for implantation into the mother's uterus.

Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to initiate the pregnancy and
then undergo chorionic villus sampling in the first trimester or amniocentesis in the second trimester to test the fetus for the
presence of disease. If the fetus tested positive for the disorder, the couple would be faced with the dilemma of whether or not
to terminate the pregnancy.

If you are considering PGD, you should research the as many fertility centers as possible and ask for there success rates.
Success rate can vary, consider asking the success rate using PGD for single gene disorders and ages of theses woman. You
may also want to inquire how long the fertility center has been preforming PGD.
Please note that you have the right to ask your Genetic Counselor what laboratory your blood samples are being sent to for
your genetic testing.

Please note that insurance coverage in the USA is different for everyone, some health insurance will cover the costs of genetic
testing and others will not. If your health insurance does cover genetic testing the blood samples will most likely be sent to
GeneDx Lab

If your insurance does not cover genetic testing and you will be paying out of pocket for genetic testing there is a price
difference and having genetic testing done in Belgium or Italy will cost less and offer a wider range of genetic testing for the EXT
1 & EXT2 genes. MHERF is only pointing this out as the consumer, you have the right to know the differences in genetic testing
that can be preformed and costs as well.  

All labs located on the web-page are certified in the USA or Europe and have world wide reputations.

The Genetic counselor can make the arrangements to over night a blood sample to Belgium or Italy, if this is the laboratory that
you have chosen for your genetic testing of the EXT1 and EXT2 genes .

If have been diagnosed with MHE / MO / HME and have received a negative result, (meaning a mutation or deletion was not
found during clinical testing from other laboratories,  your genetic counselor should contact
Wim Wutys, Ph.D, Department
of Medical Genetics, University of Antwerp Belgium or Luca Sangiorgi, M.D.,Ph.D.,The Rizzoli Orthopaedic Institute,
Bologna, Italy directly, so they may review all genetic testing that has been preformed thus far and advise what additional
clinical genetic testing that could be offered.

Laboratories offer more then one clinical genetic test that can be preformed. (see chart below)
If you are Physician  or Genetic Counselor would a second opinion or assistance related to care, the physician can to email
Sarah Ziegler directly or sign into the physician registry.  At that point the MHE Research Foundation will put the Physician /
Genetic Counselor directly in contact with a Physician or Geneticists that could help sort out the medical issue directly. This
assistance is offered to medical professionals only. If you are a patient wanting a second opinion please use the directories
located on this webpage, if after you still need assistance contact Sarah Ziegler.
What are these Tests
Click link for Discription
& animations
Laboratory Offering
these gene tests
Laboratory Offering
these gene tests
Laboratory Offering
these gene tests
Laboratory Offering
these gene tests
PCR-direct sequencing
(polymerase chain
reaction)
Department of Medical
Genetics, University of
Antwerp Belgium
T
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
GENDIA
(for Genetic diagnostics)
Belgium
GeneDx Laboratory USA
(DHPLC) denaturing
high performance liquid
chromatography
Department of Medical
Genetics, University of
Antwerp Belgium
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
GENDIA
(for Genetic diagnostics)
Belgium
offered as research
 
(MLPA) multiplex
ligation- dependent
probe amplification
Department of Medical
Genetics, University of
Antwerp Belgium
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
GENDIA
(for Genetic diagnostics)
Belgium
offer as research
 

(FISH) Fluorescence In
Situ Hybridization
Department of Medical
Genetics, University of
Antwerp Belgium
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
   

linkage analysis
Department of Medical
Genetics, University of
Antwerp Belgium
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
   
Fertility centers offering
 PGD.
All centers doing PGD
will do set up they may
need the link for
GENDIA
    PGD set up for use in
GENDIA
(for Genetic diagnostics)
Belgium
 

Prenatal diagnosis
Department of Medical
Genetics, University of
Antwerp Belgium
The Genetic Unit ,The
Rizzoli Orthopaedic
Institute, Bologna, Italy
  GeneDx Laboratory USA
Wim Wuyts, Ph.D.
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
This presentation will open in a new browser window.
To view the video presentation of MHE / MO / HME Genetics
presented by Dr. Wuyts
please
Click Here

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing
Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set
in Patients with Multiple Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi{ddagger} and
Wim Wuyts*
Click Here to read this full text publication
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ChangeDetection
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Wings of HOPE as we REACH
for the CURE to
Multiple Hereditary Exostoses  Syndrome
Multiple Osteochondroma Syndrome
Validation of a new multiple osteochondromas classification through Switching Neural Networks.
Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L.
Click Here to Read full text publication Am J Med Genet A. 2013 Mar;161(3):556-60. doi: 10.1002/ajmg.a.35819.
Epub 2013 Feb 8.

Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical Advisory Board
If you are Physician  or Genetic Counselor would a second opinion or assistance related to care, email Sarah Ziegler directly or
sign into the
physician registry.

At that point the MHE Research Foundation will put the Physician/Genetic Counselor directly in contact with a Physician or
Geneticists that could help sort out the medical issue directly. This assistance is offered to medical professional only.

If you are a patient wanting a second opinion please use the doctor directories located on this website, if after you still need
assistance contact Sarah Ziegler.












































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